Neonatal Dried Blood Spot Metabolomics Reveals Signatures of Early-Onset Myeloproliferative Neoplasms.

The etiology of myeloproliferative neoplasms (MPN) is poorly understood. We investigated the possible role of early-life exposures in the pathogenesis of MPN diagnosed among children and young adults in a population-based case-control study in California. Untargeted metabolomics analysis was conducted using archived neonatal dried blood spots. Data reduction methodologies revealed subtle metabolic differences between cases and controls, particularly when stratifying by age at diagnosis. Key differences were observed in fatty acids, amino acids, and metabolites in redox pathways. This study suggests that moderate metabolic changes in early life may contribute to the development of MPN in children and young adults. It also provides a foundation for future investigations aimed at a deeper exploration of the identified metabolites as potential biomarkers in early-onset MPN.